regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR10J1_chr1_159434722_159445967 | 159440550 | T | A | stop_gained | HIGH | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(20): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0000a0004c0004t0004g0000 | 23 | 456 | 0.0504 | 0 | c.759 others(3): Show |
p.Cys others(4): Show |
OR10J1 | ENSG00000196184.10 | transcript | ENST00000423932.6 | protein_coding | 1/1 | 829/1246 | 759/930 | 253/309 | chr1 | TogoVar | ||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | ||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(5): Show | a0003c0002t0001g0001a0003c0002t0001g0006a0003c0002t0005g0001others(6): Show | 145 | 445 | 0.3258 | 0 | c.580 others(3): Show |
p.Gln others(4): Show |
OR2J1 | ENSG00000204702.6 | transcript | ENST00000641659.2 | protein_coding | 2/2 | 1132/2311 | 580/939 | 194/312 | chr6 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248295573 | CT | C | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(97): Show |
a0002 | a0002c0002a0002c0031a0002c0032others(2): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0033others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0011others(17): Show | 100 | 406 | 0.2463 | -1 | c.5de others(2): Show |
p.Glu others(3): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 273/5708 | 5/963 | 2/320 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0009a0004c0005others(2): Show | a0003c0003t0000a0003c0009t0000a0004c0005t0000others(2): Show | a0003c0003t0000g0000a0003c0009t0000g0000a0004c0005t0000g0000others(2): Show | 136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(1): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(1): Show | 158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | ||
OR4C16_chr11_55567128_55578060 | 55572176 | C | T | stop_gained | HIGH | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(113): Show |
a0002 | a0002c0002a0002c0009a0002c0021others(2): Show | a0002c0002t0000a0002c0009t0000a0002c0021t0000others(2): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0002c0021t0000g0000others(2): Show | 116 | 440 | 0.2636 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 49/933 | 49/933 | 17/310 | chr11 | TogoVar | ||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(152): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0017others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(11): Show | 155 | 454 | 0.3414 | 2 | c.586 others(9): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1333/3796 | 587/948 | 196/315 | chr14 | TogoVar | ||
OR4M2B_chr15_21632909_21643992 | 21638388 | C | T | stop_gained | HIGH | HG00609.hp2 HG02071.hp1 HG02135.hp1 others(9): Show |
a0006 | a0006c0007a0006c0011 | a0006c0007t0001a0006c0011t0001 | a0006c0007t0001g0000a0006c0011t0001g0000 | 12 | 215 | 0.0558 | 0 | c.382 others(3): Show |
p.Arg others(4): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 1/1 | 480/1084 | 382/942 | 128/313 | chr15 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002a0003c0003t0002g0011a0003c0003t0002g0013others(6): Show | 65 | 386 | 0.1684 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | chr11 | TogoVar | ||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
PARP9_chr3_122522924_122569300 | 122536282 | CCATCATT others(7): Show |
C | frameshift_variant | HIGH | NA19076.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0331 | 1 | 436 | 0.0023 | -14 | c.195 others(23): Show |
p.Lys others(5): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 10/11 | 2110/3045 | 1952/2460 | 651/819 | chr3 | TogoVar | ||
PCNX3_chr11_65610776_65642439 | 65618690 | GTACTGAC others(15): Show |
G | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0036 | a0011c0036t0009 | a0011c0036t0009g0060 | 1 | 396 | 0.0025 | -22 | c.133 others(31): Show |
p.Thr others(5): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 6/35 | 1866/7102 | 1330/6105 | 444/2034 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
PCSK1N_chrX_48826096_48840610 | 48831930 | C | CG | frameshift_variant | HIGH | NA18949.hp2 NA19076.hp1 |
a0004a0007 | a0004c0006a0007c0008 | a0004c0006t0002a0007c0008t0002 | a0004c0006t0002g0053a0007c0008t0002g0052 | 2 | 314 | 0.0064 | 1 | c.525 others(4): Show |
p.Ala others(5): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 2/3 | 603/1025 | 525/783 | 175/260 | chrX | TogoVar | ||
PDZD11_chrX_70281595_70294927 | 70288471 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | 1 | c.129 others(4): Show |
p.Leu others(4): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 3/7 | 210/991 | 129/423 | 43/140 | chrX | TogoVar | ||
PDZD11_chrX_70281595_70294927 | 70289307 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | 1 | c.34d others(3): Show |
p.Val others(4): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 2/7 | 115/991 | 34/423 | 12/140 | chrX | TogoVar | ||
PGM2_chr4_37821686_37867937 | 37844412 | TGGGGTGG others(28): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0006 | a0006c0017 | a0006c0017t0005 | a0006c0017t0005g0272 | 1 | 446 | 0.0022 | -35 | c.771 others(42): Show |
p.Val others(5): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 7/14 | 818/3211 | 771/1839 | 257/612 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
PIN4_chrX_72176757_72203340 | 72181799 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0142 | 1 | 307 | 0.0033 | 1 | c.19d others(3): Show |
p.Ser others(3): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 1/4 | 49/1239 | 20/396 | 7/131 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | ||
PLAC1_chrX_134560838_134663471 | 134566256 | C | CA | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0080 | 1 | 252 | 0.0040 | 1 | c.426 others(8): Show |
p.Asp others(5): Show |
PLAC1 | ENSG00000170965.10 | transcript | ENST00000359237.9 | protein_coding | 3/3 | 700/1119 | 426/639 | 142/212 | chrX | TogoVar | ||
PLXNB3_chrX_153759249_153784341 | 153777235 | A | AG | frameshift_variant | HIGH | HG02572.hp1 HG04184.hp2 NA19058.hp1 others(2): Show |
a0011a0015a0017others(1): Show | a0011c0017a0015c0037a0017c0035others(1): Show | a0011c0017t0001a0015c0037t0008a0017c0035t0001others(1): Show | a0011c0017t0001g0058a0011c0017t0001g0073a0015c0037t0008g0112others(2): Show | 5 | 308 | 0.0162 | 1 | c.496 others(5): Show |
p.Val others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 30/36 | 5085/6153 | 4964/5730 | 1655/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073113 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.52d others(3): Show |
p.Arg others(4): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 334/2238 | 53/1200 | 18/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073154 | A | AT | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.93d others(3): Show |
p.Asp others(4): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 375/2238 | 94/1200 | 32/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073317 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | -1 | c.260 others(4): Show |
p.Gly others(4): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 541/2238 | 260/1200 | 87/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073374 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.313 others(4): Show |
p.Leu others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 595/2238 | 314/1200 | 105/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073519 | C | CA | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.458 others(4): Show |
p.Ser others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 740/2238 | 459/1200 | 153/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073555 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.497 others(4): Show |
p.Gly others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 779/2238 | 498/1200 | 166/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073936 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.877 others(4): Show |
p.Ala others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1159/2238 | 878/1200 | 293/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074018 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | 1 | c.960 others(4): Show |
p.Leu others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1242/2238 | 961/1200 | 321/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074050 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0012 | 1 | 86 | 0.0116 | -1 | c.990 others(4): Show |
p.Ser others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1271/2238 | 990/1200 | 330/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
POU3F2_chr6_98829574_98844458 | 98835104 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(44): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0000a0002c0002t0002g0000a0002c0002t0004g0000others(7): Show | 47 | 436 | 0.1078 | 1 | c.239 others(4): Show |
p.Gly others(4): Show |
POU3F2 | ENSG00000184486.10 | transcript | ENST00000328345.8 | protein_coding | 1/1 | 540/4885 | 240/1332 | 80/443 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286012 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.132 others(5): Show |
p.Ala others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1405/3477 | 1328/2400 | 443/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286030 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.134 others(5): Show |
p.Leu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1420/3477 | 1343/2400 | 448/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286088 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.140 others(5): Show |
p.Leu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1482/3477 | 1405/2400 | 469/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286214 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.152 others(5): Show |
p.Gly others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1607/3477 | 1530/2400 | 510/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286309 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.162 others(5): Show |
p.Glu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1700/3477 | 1623/2400 | 541/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286423 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.173 others(5): Show |
p.Glu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1814/3477 | 1737/2400 | 579/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286571 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.188 others(5): Show |
p.Val others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1961/3477 | 1884/2400 | 628/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286677 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.198 others(5): Show |
p.Glu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 2066/3477 | 1989/2400 | 663/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286753 | T | TA | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.206 others(5): Show |
p.Ser others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 2142/3477 | 2065/2400 | 689/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286785 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.209 others(5): Show |
p.Gln others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 2174/3477 | 2097/2400 | 699/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286803 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | 1 | c.211 others(5): Show |
p.Leu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 2194/3477 | 2117/2400 | 706/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PPP1R3F_chrX_49264793_49293090 | 49286973 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0015 | a0011c0015t0011 | a0011c0015t0011g0051 | 1 | 288 | 0.0035 | -1 | c.228 others(5): Show |
p.Leu others(5): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 2363/3477 | 2286/2400 | 762/799 | INFO_REALIGN_3_PRIME | chrX | TogoVar |